Serologically defined colon cancer antigen 8 (IPR031887)

Short name:
SDCCAG8

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Serologically defined colon cancer antigen 8 (SDCCAG8), also known as CCCAP (centrosomal colon cancer autoantigen protein), is a family of proteins found in eukaryotes. Mutations of SDCCAG8 are associated with nephronophthisis [PMID: 20835237] and Bardet-Biedl syndrome [PMID: 22626039], as well as schizophrenia. SDCCAG8 is associated with the centrosome [PMID: 12559564] and interacts with pericentriolar material 1 (PCM1), a centriolar satellite protein crucial for targeting proteins to the centrosome. It regulates centrosomal accumulation of pericentriolar material and neuronal polarisation and migration in the developing mouse cortex [PMID: 25088364].

SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is linked to an autosomal recessive cystic kidney disease, NPHP-RC (nephronophthisis-related ciliopathies). Depletion of SDCCAG8 causes kidney cysts and a body axis defect in zebrafish [PMID: 20835237].